Substrate reduction therapies for mucopolysaccharidoses

Current Pharmaceutical Biotechnology

Volumn 12, Issue 11, 2011, Pages 1860-1865

  Jakóbkiewicz Banecka, Joanna ^a   Piotrowska, Ewa ^a   Gabig Cimińska, Magdalena ^a   Borysiewicz, Elzbieta ^a,b   Słomińska Wojewódzka, Monika ^a   Narajczyk, Magdalena ^a   Wegrzyn, Alicja ^a   Wegrzyn, Grzegorz ^a  

^a UNIVERSITY OF GDA SK   (Poland)

^b WEST VIRGINIA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Gene expression targeted isoflavone therapy; Lysosomal storage diseases; Mucopolysaccharidoses; Shrna; Sirna; Substrate reduction therapy

Indexed keywords

BETA GLUCURONIDASE; EPIDERMAL GROWTH FACTOR RECEPTOR; GENISTEIN; GLYCOSAMINOGLYCAN; HYALURONIDASE; IDURONATE 2 SULFATASE; ISOFLAVONE; N ACETYLGALACTOSAMINE 4 SULFATASE; RHODAMINE B; SYNAPTOPHYSIN; TAU PROTEIN;

ALZHEIMER DISEASE; BONE MARROW TRANSPLANTATION; BRAIN FUNCTION; CENTRAL NERVOUS SYSTEM DISEASE; COGNITION; DRUG EFFICACY; ENZYME INHIBITION; ENZYME REPLACEMENT; ENZYME SYNTHESIS; GENE EXPRESSION; GENE SILENCING; HEMATOPOIETIC STEM CELL; HUMAN; MOLECULAR MECHANICS; MOLECULARLY TARGETED THERAPY; MUCOPOLYSACCHARIDOSIS; NEUROPROTECTION; NONHUMAN; REVIEW; RNA INTERFERENCE; SUBSTRATE REDUCTION THERAPY; SYMPTOM;

EID: 83455259955     PISSN: 13892010     EISSN: 18734316     Source Type: Journal    
DOI: 10.2174/138920111798376932     Document Type: Review

References (50)

1. Reilly, M.M.; Shy, M.E. Diagnosis and new treatments in genetic neuropathies. J. Neurol. Neurosurg Psychiatry., 2009, 80, 1304-1314.
2. Salloway, S. Current and future treatments for Alzheimer's disease. CNS Spectr., 2009, 14, 4-7.
3. Saragovi, H.U.; Hamel, E.; Di Polo, A. A neurotrophic rational for the therapy of neurodegenerative disorders. Curr. Alzheimer Res., 2009, 6, 419-423.
4. Sananbenesi, F.; Fischer, A. The epigenetic bottleneck of neurodegenerative and psychiatric diseases. Biol. Chem., 2009, 390, 1145-1153.
5. Schüle, B.; Pera, R.A.; Langston, J.W. Can cellular models revolutionize drug discovery in Parkinson's disease? Biochim. Biophys. Acta, 2009, 1792, 1043-1051.
6. Nanou, A.; Azzouz, M. Gene therapy for neurodegenerative diseases based on lentiviral vectors. Prog. Brain Res, 2009, 175,187-200.
7. th edition); Warrell, D.; Firth, J.; Cox, T.M., Eds.; Oxford University Press. http://otm.oxfordmedicine.com/ (accessed June 2, 2011)
8. Lim-Melia, E.R.; Kronn, D.F. Current enzyme replacement therapy for a treatment of lysosomal storage diseases. Pediatr. Ann., 2009, 38, 448-455.
9. Neufeld, E.F.; Muenzer, J. In: The Metabolic and Molecular Bases of Inherited Disease; Scriver, C.R.; Beaudet, A.L.; Sly, W.S.; Valle, D., Eds; McGraw-Hill Co, New York, 2001; pp. 3421-3452.
10. Triggs-Raine, B.; Salo, T.J.; Zhang, H.; Wicklow, B.A.; Natowicz, M.R. Mutation in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc. Natl. Acad. Sci. USA, 1999, 96, 6296-6300.
11. Wegrzyn, G.; Wegrzyn, A.; Tylki-Szymańska, A. A general model for genetic regulation of turnover of glycosaminoglycans suggests a possibile procedure for prediction of severity and clinical progress of mucopolysaccharidoses. Med. Hypoth., 2004, 62, 986-992.
12. Piotrowska, E.; Jakóbkiewicz-Banecka, J.; Tylki-Szymańska, A.; Czartoryska, B.; Wegrzyn, A.; Wegrzyn, G. Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis. Acta Paediatr., 2009, 98, 743-749.
13. Rohrbach, M.; Clarke, J.T. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs, 2007, 67, 2697-2716.
14. Ponder, K.P.; Haskins, M.E. Gene therapy of mucopolysaccharidosis. Expert Opin. Biol. Ther., 2007, 7, 1333-1345.
15. Clarke, L.A. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev. Mol. Med., 2008, 10, e1.
16. Walkley, S.U.; Vanier, M.T. Secondary lipid accumulation in lysosomal disease. Biochim. Biophys. Acta, 2009, 1793, 726-736.
17. Brooks, D.A.; Muller, V.J.; Hopwood, J.J. Stop-codon readthrough for patients affected by a lysosomal storage disorder. Trends. Mol. Med., 2006, 12, 367-373.
18. Beck, M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum. Genet., 2007, 121, 1-22.
19. Jakóbkiewicz-Banecka, J.; Wegrzyn, A.; Wegrzyn, G. Substrate deprivation therapy: a new hope for patients suffering from neuronophatic forms of inherited lysososmal storage disorders. J. Appl. Genet., 2007, 48, 383-388.
20. Platt, F.M.; Jeyakumar, M. Substrate reduction therapy. Acta Paediatr. Suppl., 2008, 97, 88-93.
21. Roberts, A.L.; Thomas, B.J.; Wilkinson, A.S.; Fletcher, J.M.; Byers, S. Inhibition of glycosaminoglycan synthesis using a rhodamine B in a mouse model of mucopolysaccharidosis type IIIA. Pediatr. Res., 2006, 60, 309-314.
22. Roberts, A.L.; Rees, M.H.; Klebe, S.; Fletcher, J.M.; Byers, S. Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse modelof MPS III A. Mol. Genet. Metab., 2007, 92, 115-121.
23. Dixon, R.A.; Ferreira, D. Genistein. Phytochemistry, 2002, 60, 205-211.
24. Szkudelska, K.; Nogowski, L. Genistein- a dietary compound inducing hormonal and metabolic changes. J. Steroid Biochem. Mol. Biol., 2007, 105, 37-45.
25. Piotrowska, E.; Jakóbkiewicz-Banecka, J.; Barańska, S.; Tylki-Szymańska, A.; Czartoryska, B.; Wegrzyn, A.; Wegrzyn, G. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for the gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur. J. Hum. Genet., 2006, 4, 846-852.
26. Jakóbkiewicz-Banecka, J.; Piotrowska, E.; Narajczyk, M.; Barańska, S.; Wegrzyn, G. Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway. J. Biomed. Sci., 2009, 16, 26.
27. Boonstra, J.; Rijken, P.; Humbel, B.; Cremers, F.; Verkleij, A.; van Bergen en Henegouwen P. The epidermal growth factor. Cell. Biol. Int., 1995, 19, 413-430.
28. Malinowska, M.; Wilkinson, F.L.; Langford-Smith, K.J.; Langford-Smith, A.; Brown, J.R.; Crawford, B.E.; Vanier, M.T; Grynkiewicz, G.; Wynn, R.F.; Wraith, J.E.; Wegrzyn, G.; Bigger, B.W. Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS ONE, 2010, 5, e14192.
29. Malinowska, M.; Wilkinson F.L.; Bennett, W.; Langford-Smith, K.J.; O'Leary H.A.; Jakóbkiewicz-Banecka, J.; Wynn, R.; Wraith, J.E.; Wegrzyn, G.; Bigger, B.W. Genistein reduces lysosomal storage in peripheral tissues in mucopolysaccharide IIIB mice. Mol. Genet. Metabol., 2009, 98, 235-242.
30. Klein, C.B.; King, A.A. Genistein genotoxicity: critical consideration of in vitro exposure dose. Toxicol. Appl. Pharmacol., 2007, 224, 1-11.
31. Piotrowska, E.; Jakóbkiewicz-Banecka, J.; Tylki-Szymańska, A.; Liberek, A.; Maryniak, A.; Malinowska, M.; Czartoryska, B.; Puk, E.; Kloska, A.; Liberek, T.; Barańska, S.; Wegrzyn, A.; Wegrzyn, G. The use of genistein-rich isoflavone extract in substrate reduction therapy for Sanfilippo disease: open-label, pilot study in 10 pediatric patients. Curr. Ther. Res. Clin. Exp., 2008, 69, 166-179.
32. Kloska, A.; Bohdanowicz, J.; Konopa, G.; Tylki-Szymańska, A.; Jakobkiewicz-Banecka, J.; Czartoryska, B.; Liberek, A.; Wegrzyn, A.; Wegrzyn, G. Changes in hair morphologyof mucopolysaccharidosis I patients treated with recombinant human alfa-L-iduronidase (laronidase, Aldurazyme). Am. J. Med. Genet., 2005, 139A, 199-203.
33. Wegrzyn, G.; Tylki-Szymańska, A.; Liberek, A.; Piotrowska, E.; Jakobkiewicz-Banecka, J.; Marucha, J.; Czartoryska, B.; Wegrzyn, A. Rapid deterioration of a patient with mucopolysaccharidosis I during interruption of enzyme replacement therapy. Am. J. Med. Genet., 2007, 143A, 1925-1927.
34. Malinowska, M.; Jakóbkiewicz-Banecka, J.; Kloska, A.; Tylki-Szymańska, A.; Czartoryska, B.; Piotrowska, E.; Wegrzyn, A.; Wegrzyn, G. Abnormalities in the hair morphology of patients of some but not all types of mucopolysaccharidoses. Eur. J. Pediatr., 2007, 167, 203-209.
35. Hamano, K.; Hayashi, M.; Shioda, K.; Fukatsu, R.; Mizutani, S. Mechanisms of neurodegeneration in mucopolysacchridoses II and IIIB: analysis of human brain tissue. Acta Neuropathol., 2008, 115, 547-559.
36. Villani, G.R.; Gargiulo, N.; Faraonio, R.; Castaldo, S.; Gonzalez, Y.; Reyero, E.; Di Natale, P. Cytokines, nuerotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. J. Neurosci. Res., 2007, 85, 612-622.
37. Villani, G.R.; Di Domenico, C.; Musella, A.; Cecere, F.; Di Napoli, D.; Di Natale, P. Mucopolysaccharisosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. Brain Res., 2009, 1279, 99-108.
38. Ohmi, K.; Kudo, L.C.; Ryazantsev, S.; Zhao, H.Z.; Karsten, S.L.; Neufeld, E.F. Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy. Proc. Natl. Acad. Sci. USA, 2009, 106, 8332-8337.
39. Liang, H.W.; Qiu, S.F.; Shen, J.; Sun, L.N.; Wang, J.Y.; Bruce, I.C.; Xia, Q. Genistein attenuates oxidative stress and neuronal damage following transient global cerebral ischemia in rat hippocampus. Neurosci. Lett., 2008, 438, 116-120.
40. Bang, O.H.; Hong, H.S.; Kim, D.H.; Kim, H.; Boo, J.H.; Huh, K.; Mook-Jung, I. Neuroprotective effect of genistein against beta amyloid-induced neurotoxicity. Neurobiol. Dis., 2004, 16, 21-28.
41. Zeng, H.; Chen, Q.; Zhao, B. Genistein ameliorates beta-amyloid peptid (25-35)-induced hippocampal neuronal apoptosis. Free Radical Biol. Med., 2004, 36, 180-188.
42. Kajta, M.; Domin, H.; Grynkiewicz, G.; Lason, W. Genistein inhibits glutamate-induced apoptotic processes in primary neuronal cell cultures: an involvement of aryl hydrocarbon receptor and estrogen receptor/glycogen synthase kinase-3beta intracellular signaling pathway. Neuroscience, 2007, 145, 592-604.
43. Valles, S.L.; Dolz-Gaiton, P.; Gambini, J.; Borras, C.; Loret, A.L.; Pallardo, F.V.; Viña, J. Estradiol and genistein prevent Alzheimer's disease-associated inflammation correlating with an increase PPAR gamma expression cultured astrocytes. Brain Res., 2010, 1312, 138-144.
44. Marotta, F.; Mao, G.S.; Liu, T.; Chui, D.H.; Lorenzetti, A.; Xiao, Y.; Marandola, P. Anti-inflammatory and neuroprotective effects of a phytoestrogen compound on rat microglia. Ann. N. Y. Acad. Sci., 2006, 1089, 276-281.
45. Chindewa, R.; Lapanantasin, S.; Sanvarinda, Y.; Chongthammakun, S. Genistein effects on synaptophysin expression in rat hippocampal neurons. Ann. Microsc., 2007, 7, 95-101.
46. López-Fraga, M.; Martínez, T.; Jiménez, A. RNA interference technologies and therapeutics: from basic research to products. BioDrugs, 2009, 23, 305-332.
47. Kaidonis, X.; Liaw, W.C.; Roberts, A.D.; Ly, M.; Anson, D.; Byers, S. Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulfate storing mucopolysaccharidoses. Eur. J. Hum. Genet., 2010, 18, 194-199.
48. Dziedzic, D.; Wegrzyn, G.; Jakóbkiewicz-Banecka, Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. J. Eur. J. Hum. Genet., 2010, 18, 200-205.
49. Smith, R.A.; Miller, T.M.; Yamanaka, K.; Monia, B.P.; Condon, T.P.; Hung, G.; Lobsiger, C.S.; Ward, C.M.; McAlonis-Downes, M.; Wei, H.; Wancewicz, E.V.; Bennett, C.F.; Cleveland, D.W. Antisense oligonucleotide therapy for neurodegenerative disease. J. Clin. Invest., 2006, 116, 2290-2296.
50. Juliano, R.; Alam, M.R.; Dixit, V.; Kang H. Mechanism and strategies for effective delivery of antisense and siRNA oligonucleotides. Nucleic Acids Res., 2008, 36, 4158-4171